ID   GM25234
AC   CVCL_HL38
DR   Coriell; GM25234
DR   Wikidata; Q54853843
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Asn294Asp (c.880A>G) (p.Asn288Asp, c.862A>G); ClinVar=VCV000010948; Zygosity=Hemizygous (Coriell=GM25234).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C124845; Hyperglycerolemia
DI   ORDO; Orphanet_408; Isolated glycerol kinase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//